ClinVar Miner

List of variants reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 853
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HGVS dbSNP
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1
GRCh37/hg19 14q24.3(chr14:76184204-76201632)x0
GRCh37/hg19 15q14(chr15:38466370-38578075)x1
GRCh37/hg19 15q21.1(chr15:45360338-45437443)x2
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3
GRCh37/hg19 16q23.1(chr16:77981957-79037091)x1
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3
GRCh37/hg19 17q21.2(chr17:38456598-38456659)x1
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3
GRCh37/hg19 18p11.21(chr18:11752397-11881133)x3
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x1
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x2
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3
GRCh37/hg19 19q13.42(chr19:53793603-53824343)x3
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)x3
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 20q11.23(chr20:34959766-34960308)x1
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1
GRCh37/hg19 2q24.3(chr2:166221754-166646820)x1
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1
GRCh37/hg19 3q26.32(chr3:176895307-177090616)x3
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1
GRCh37/hg19 5q13.2(chr5:69408016-69408880)x4
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1
GRCh37/hg19 6p21.1(chr6:42039993-42270812)x3
GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
GRCh37/hg19 6q27(chr6:167360170-167362113)x0
GRCh37/hg19 7q21.3(chr7:94129826-94844077)x1
GRCh37/hg19 8p11.21(chr8:42693105-42694524)x1
GRCh37/hg19 8p11.21(chr8:42812276-42813614)x1
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3
GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
GRCh37/hg19 9p24.3(chr9:266045-434797)x1
GRCh37/hg19 Xp11.22(chrX:53094819-53414375)x1
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1
GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3
M117fs rs1563329555
NM_000020.2(ACVRL1):c.1406_1413dup (p.Trp472fs) rs1057519168
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000049.3(ASPA):c.716T>G (p.Ile239Ser) rs145085349
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000059.3(BRCA2):c.4462_4463CA[1] (p.His1488fs) rs397507720
NM_000059.3(BRCA2):c.6592G>T (p.Glu2198Ter) rs1555284766
NM_000059.3(BRCA2):c.9789_9790del (p.Asn3264fs) rs886040851
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000074.2(CD40LG):c.686T>C (p.Phe229Ser) rs1569377865
NM_000082.3(ERCC8):c.600T>A (p.Tyr200Ter) rs1554073309
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del) rs1554438053
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn) rs1554438471
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.434-1_437del rs1563074191
NM_000086.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_000088.3(COL1A1):c.1003-1G>A rs72645361
NM_000089.3(COL1A2):c.2261G>A (p.Gly754Asp) rs1554397621
NM_000089.3(COL1A2):c.569G>A (p.Gly190Glu) rs72656369
NM_000090.3(COL3A1):c.3049G>A (p.Gly1017Arg) rs1553509397
NM_000090.3(COL3A1):c.584G>T (p.Gly195Val) rs1553507249
NM_000093.4(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_000096.4(CP):c.48del (p.Ala17fs) rs1553765380
NM_000100.3(CSTB):c.13del (p.Ala5fs) rs1555888493
NM_000115.5(EDNRB):c.878dup (p.Tyr293Ter) rs1064797177
NM_000115.5(EDNRB):c.879dup (p.Thr294fs) rs1555290386
NM_000117.2(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000131.4(F7):c.64+5G>A rs769455161
NM_000135.4(FANCA):c.1567-1G>T rs1464032361
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.744dup (p.Lys249fs) rs1567645786
NM_000138.4(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.4(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer) rs1562657370
NM_000169.2(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000170.2(GLDC):c.1579_1581del (p.Ser527del) rs1563849699
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000180.3(GUCY2D):c.2122T>C (p.Trp708Arg) rs1064797217
NM_000244.3(MEN1):c.1079G>A (p.Arg360Gln) rs1114167474
NM_000248.3(MITF):c.859-2A>G rs1064797294
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000251.2(MSH2):c.1989del (p.Met663fs) rs1558518588
NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter) rs1565624607
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000257.4(MYH7):c.2443C>T (p.Gln815Ter) rs1064797184
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.346-1G>A rs1057519221
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000259.3(MYO5A):c.855dup (p.Asn286Ter) rs1555445508
NM_000260.4(MYO7A):c.135_136AC[3] (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.4442-1G>C rs1485456037
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000267.3(NF1):c.1527+5G>T rs1060500352
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2389del (p.Ala797fs) rs1555614016
NM_000267.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_000267.3(NF1):c.4342A>T (p.Lys1448Ter) rs1567862353
NM_000267.3(NF1):c.4343_4355del (p.Lys1448fs) rs1567862349
NM_000267.3(NF1):c.4728dup (p.Thr1577fs) rs1253123816
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000272.4(NPHP1):c.2098G>C (p.Gly700Arg) rs760619900
NM_000274.3(OAT):c.772-1G>A rs770390524
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186
NM_000276.4(OCRL):c.1570C>T (p.His524Tyr) rs1057521952
NM_000280.4(PAX6):c.1088C>A (p.Ser363Ter) rs1411880763
NM_000283.3(PDE6B):c.1107+3A>G rs370898371
NM_000283.3(PDE6B):c.1206C>G (p.Tyr402Ter) rs1553810330
NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000292.3(PHKA2):c.1325-2A>G rs1569310542
NM_000292.3(PHKA2):c.2395del (p.His799fs) rs1555995689
NM_000302.4(PLOD1):c.1903-2A>G rs1553137486
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000312.3(PROC):c.1216A>G (p.Met406Val) rs1553425459
NM_000314.7(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.465_466insTC (p.Ile156fs) rs1554270806
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.692C>A (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000328.3(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_000328.3(RPGR):c.1905+1176_1905+1186del rs1555961350
NM_000328.3(RPGR):c.1905+441del rs1064797365
NM_000328.3(RPGR):c.1905+511G>T rs1555961787
NM_000328.3(RPGR):c.1905+666del rs1555961704
NM_000328.3(RPGR):c.1905+700G>T rs1555961677
NM_000328.3(RPGR):c.1905+742G>T rs1555961624
NM_000328.3(RPGR):c.1905+880G>T rs1057519236
NM_000328.3(RPGR):c.1905+959G>A rs1555961491
NM_000328.3(RPGR):c.1905+982del rs1064797364
NM_000328.3(RPGR):c.1905+990dup rs1569235999
NM_000328.3(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe) rs80338955
NM_000334.4(SCN4A):c.3898_3900CAG[1] (p.Gln1301del) rs752135284
NM_000336.3(SCNN1B):c.833del (p.Gly278fs) rs1555489114
NM_000342.4(SLC4A1):c.1890+1G>A rs1567830555
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000356.4(TCOF1):c.635_636del (p.Val212fs) rs1554133681
NM_000368.4(TSC1):c.1029+2T>C rs1554817336
NM_000370.3(TTPA):c.645_646del (p.Glu216fs) rs1563678770
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000390.4(CHM):c.1413G>A (p.Gln471=) rs1556257626
NM_000393.5(COL5A2):c.2391+5G>A rs1553514799
NM_000405.5(GM2A):c.413G>A (p.Cys138Tyr) rs1174735558
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000409.4(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472
NM_000414.4(HSD17B4):c.2179_2180del (p.Gln727fs) rs1057519212
NM_000414.4(HSD17B4):c.2179_2183delinsAAA (p.Gln727fs) rs1057519420
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000426.3(LAMA2):c.1027+1G>A rs1064797327
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.6985_6988del (p.Thr2329fs) rs1064797328
NM_000431.4(MVK):c.634G>A (p.Gly212Arg) rs1555278380
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1361del (p.Val454fs) rs1064797315
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter) rs1161389116
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000445.5(PLEC):c.5134del (p.Arg1712fs) rs1057519155
NM_000445.5(PLEC):c.5136del (p.Gln1713fs) rs1064797350
NM_000445.5(PLEC):c.7468C>T (p.Gln2490Ter) rs1554689806
NM_000454.4(SOD1):c.335dup (p.Cys112fs) rs1568810771
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000488.3(SERPINC1):c.244G>T (p.Glu82Ter) rs1557904209
NM_000491.5(C1QB):c.400del (p.Leu134fs) rs1064797108
NM_000495.5(COL4A5):c.4457G>T (p.Gly1486Val) rs104886282
NM_000495.5(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000526.5(KRT14):c.40del (p.Ser13_Met14insTer) rs1567738332
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.1250T>C (p.Leu417Pro) rs764262446
NM_000540.2(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.2(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.2(RYR1):c.4363del (p.Asp1455fs) rs1555777086
NM_000540.2(RYR1):c.5814+1G>A rs1057519173
NM_000541.5(SAG):c.136+2T>G rs1233480483
NM_000550.3(TYRP1):c.481A>T (p.Ile161Phe) rs1308562697
NM_000553.4:c.1578delC rs780555196
NM_000554.6(CRX):c.100+2T>C rs281865198
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000631.5(NCF4):c.118-1G>A rs28445840
NM_000642.3(AGL):c.659A>G (p.His220Arg) rs1557749651
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.4(ATP1A2):c.1817C>A (p.Ala606Glu) rs1553245183
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000709.4(BCKDHA):c.467G>A (p.Gly156Asp) rs1555766066
NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser) rs869312868
NM_000834.4(GRIN2B):c.2750C>T (p.Ser917Leu) rs1555102552
NM_000902.4(MME):c.1579C>T (p.Arg527Ter) rs781376762
NM_000902.4(MME):c.160+2T>C rs1446583831
NM_000903.3(NQO1):c.547C>T (p.Gln183Ter) rs1555537451
NM_000944.5(PPP3CA):c.1271_1274dup (p.Leu426fs) rs1560570546
NM_000965.4(RARB):c.844G>A (p.Gly282Ser) rs1553637463
NM_001002295.2(GATA3):c.701dup (p.Ser237fs) rs1564399278
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) rs1555444715
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001013838.3(CARMIL2):c.1071+1G>T rs1555539013
NM_001013838.3(CARMIL2):c.958+1G>A rs1567628294
NM_001015880.2(PAPSS2):c.1570dup (p.His524fs) rs1554869370
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) rs1569523457
NM_001030311.2(CERKL):c.1624_1643dup (p.Gly549fs) rs1064797278
NM_001031717.4(CRELD1):c.959del (p.Gln320fs) rs759473511
NM_001031717.4(CRELD1):c.959dup (p.Cys321fs) rs1553600601
NM_001032280.3(TFAP2A):c.533A>G (p.Lys178Arg) rs1561709465
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs) rs770042200
NM_001039523.3(CHRNA1):c.959G>C (p.Gly320Ala) rs1553469070
NM_001039550.2(DNAJB2):c.230-2A>G rs369661561
NM_001039590.3(USP9X):c.420G>T (p.Trp140Cys) rs1555919860
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001069.3(TUBB2A):c.1247A>G (p.Asn416Ser) rs1561805651
NM_001077350.3(NPRL3):c.189-2A>T rs1567142752
NM_001079515.3(TBCE):c.1183C>T (p.Gln395Ter) rs1553339816
NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs) rs1555349149
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079878.2(CNGA3):c.1756C>T (p.Gln586Ter) rs753692812
NM_001079878.2(CNGA3):c.494G>A (p.Trp165Ter) rs1064797258
NM_001080449.3(DNA2):c.184_185TG[1] (p.Cys62_Glu63delinsTer) rs777604935
NM_001080449.3(DNA2):c.184_185TG[3] (p.Glu63fs) rs777604935
NM_001080517.2(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001081.3(CUBN):c.382C>T (p.Gln128Ter) rs374695194
NM_001081.3(CUBN):c.7001-1G>T rs764379478
NM_001083961.2(WDR62):c.2263del (p.His755fs) rs1064797237
NM_001083962.2(TCF4):c.549+1G>T rs1555917396
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001098816.3(TENM4):c.2349del (p.Glu784fs) rs1555080708
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001102608.2(COL6A6):c.3971-2A>G rs1553788733
NM_001122769.3(LCA5):c.574dup (p.Thr192fs) rs1057519136
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs) rs1491240980
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1949del (p.Asn650fs) rs1568518113
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.4093-3C>G rs1555745158
NM_001127221.1(CACNA1A):c.5395T>C (p.Ser1799Pro) rs1568443280
NM_001127221.1(CACNA1A):c.5403+2T>C rs1057519197
NM_001127221.1(CACNA1A):c.5628+1G>A rs1555736262
NM_001127221.1(CACNA1A):c.6046G>T (p.Gly2016Ter) rs746848153
NM_001127221.1(CACNA1A):c.814T>C (p.Cys272Arg) rs1568569290
NM_001127453.2(GSDME):c.1183+1G>A rs1554322596
NM_001127628.1(FBP1):c.357T>A (p.Asp119Glu) rs765743651
NM_001127666.2(GSN):c.1356del (p.Trp453fs) rs1554821138
NM_001128425.1(MUTYH):c.1038G>A (p.Ser346=) rs372673338
NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp) rs750592289
NM_001128849.2(SMARCA4):c.2438C>T (p.Ser813Leu) rs1064795105
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001131005.2(MEF2C):c.13_14del (p.Lys5fs) rs1554150590
NM_001131005.2(MEF2C):c.14del (p.Lys5fs) rs1554150590
NM_001131005.2(MEF2C):c.258+1G>T rs1064797310
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595
NM_001136035.3(TRMT1):c.1107-2A>G rs1555716802
NM_001136035.3(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001142294.1(SPART):c.1794dup (p.Val599fs) rs779688963
NM_001142294.1(SPART):c.712G>T (p.Glu238Ter) rs1555263116
NM_001142446.2(ANK1):c.3925A>T (p.Lys1309Ter) rs1554543126
NM_001142784.2(IL11RA):c.3G>A (p.Met1Ile) rs1470928377
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.3878-2A>G rs752930400
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001145847.2(PROM1):c.1551+1G>A rs1553901823
NM_001146040.2(GLRA1):c.36G>A (p.Trp12Ter) rs1064797316
NM_001164277.1(SLC37A4):c.238_239del (p.Phe80fs) rs1555191595
NM_001164277.1(SLC37A4):c.612dup (p.Glu205Ter) rs1555191211
NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs) rs1554417054
NM_001164731.2(REEP1):c.25-18128G>A rs1064797257
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001172477.1(RRM2B):c.1006-2A>G rs1441534206
NM_001172697.1(TSFM):c.571+3476G>A rs587777688
NM_001178007.1(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1720G>T (p.Glu574Ter) rs1064797376
NM_001184880.2(PCDH19):c.865_868del (p.Phe289fs) rs1064797377
NM_001184880.2(PCDH19):c.927del (p.His310fs) rs1555985389
NM_001184889.1(NIPA2):c.731A>G (p.Asn244Ser) rs371775791
NM_001195248.2(APTX):c.353C>G (p.Ser118Ter) rs1563967576
NM_001197104.1(KMT2A):c.2322_2323del (p.Ser775fs) rs1555036478
NM_001197104.1(KMT2A):c.2517dup (p.Thr840fs) rs1057519149
NM_001197104.1(KMT2A):c.3193G>T (p.Gly1065Ter) rs1064797162
NM_001197104.1(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001199298.2(UIMC1):c.1677-1G>A rs766633588
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001199752.2(CPT1C):c.1655G>T (p.Gly552Val) rs1486248764
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) rs1553354522
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001242897.2(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242897.2(DEPDC5):c.4219+1G>A rs1555942720
NM_001242957.2(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001244710.1(GFPT1):c.736_737AG[1] (p.Gly247fs) rs1553390600
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440
NM_001256047.1(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.101494del (p.Ile33832fs) rs1559044465
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs) rs1553484602
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter) rs1553908254
NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) rs1057519160
NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) rs1057519237
NM_001267550.2(TTN):c.72827_72828CT[1] (p.Leu24277fs)
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg) rs1355068287
NM_001277115.2(DNAH11):c.7646-1G>T rs1327282449
NM_001277115.2(DNAH11):c.9244A>T (p.Lys3082Ter) rs1057519105
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001277269.1(OTOG):c.5020G>T (p.Gly1674Ter) rs1407028917
NM_001289862.1(PER3):c.749_753del (p.Pro250fs) rs1558401132
NM_001297.5(CNGB1):c.2794+1G>A rs770011113
NM_001297.5(CNGB1):c.2867del (p.Ile956fs) rs1231250334
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu) rs749060708
NM_001330078.2(NRXN1):c.1551_1555del (p.Ile517_Leu518insTer) rs1558925686
NM_001356.4(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.4(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.4(DDX3X):c.822_824del (p.Thr275del) rs1569238251
NM_001364905.1(LRBA):c.7849+2T>C rs1553996145
NM_001364905.1(LRBA):c.839del (p.Lys280fs) rs1553998602
NM_001367561.1(DOCK7):c.1872-6A>T rs756259590
NM_001376.5(DYNC1H1):c.1741A>T (p.Met581Leu) rs1566999047
NM_001429.4(EP300):c.1164C>A (p.Cys388Ter) rs1555907286
NM_001458.4(FLNC):c.2795dup (p.Tyr932Ter) rs1562995883
NM_001563.4(IMPG1):c.1291+1G>T rs1433546528
NM_001733.7(C1R):c.926G>A (p.Cys309Tyr) rs1555164437
NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg) rs1064797167
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001846.4(COL4A2):c.3170dup (p.Gly1058fs) rs969435078
NM_001846.4(COL4A2):c.4357G>T (p.Gly1453Ter) rs1555333626
NM_001846.4(COL4A2):c.913-1G>A rs1064797180
NM_001848.2(COL6A1):c.1021G>C (p.Gly341Arg) rs886043321
NM_001848.2(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.2(COL6A1):c.904-2A>G rs1057519174
NM_001849.3(COL6A2):c.2133C>G (p.Tyr711Ter) rs531816975
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.855+1G>C rs1057517988
NM_001851.5(COL9A1):c.188del (p.Phe63fs) rs1057519130
NM_001851.5(COL9A1):c.1965dup (p.Pro656fs) rs1064797325
NM_001851.5(COL9A1):c.1970dup (p.Gly658fs) rs1322800124
NM_001852.4(COL9A2):c.1053+1G>A rs1064797109
NM_001852.4(COL9A2):c.1332del (p.Val446fs) rs1557793484
NM_001939.2(DRP2):c.379del (p.Ala127fs) rs753185936
NM_001939.2(DRP2):c.973C>T (p.Gln325Ter) rs1556419606
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001972.4(ELANE):c.136_141del (p.Ser46_Leu47del) rs1555709349
NM_001982.3(ERBB3):c.2274+1G>A rs1057519169
NM_001983.4(ERCC1):c.155C>A (p.Ser52Ter) rs149666093
NM_002087.3(GRN):c.-8+3A>G rs63751020
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002160.4(TNC):c.4172A>G (p.Gln1391Arg) rs1057519148
NM_002206.3(ITGA7):c.2761C>T (p.Gln921Ter) rs767943997
NM_002294.2(LAMP2):c.1A>T (p.Met1Leu) rs1556124149
NM_002317.7(LOX):c.545del (p.Pro182fs) rs1372924173
NM_002335.4(LRP5):c.2457C>G (p.Tyr819Ter) rs1057519127
NM_002335.4(LRP5):c.480del (p.Ala161fs) rs1057519126
NM_002389.4(CD46):c.1148C>T (p.Thr383Ile) rs146803767
NM_002473.5(MYH9):c.32_33del (p.Tyr11fs) rs1556642578
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002501.4(NFIX):c.154G>T (p.Glu52Ter) rs1555696499
NM_002524.5(NRAS):c.127C>T (p.Gln43Ter) rs1553244454
NM_002547.3(OPHN1):c.1105-1G>T rs1555951715
NM_002547.3(OPHN1):c.1277-1G>C rs1064797373
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002700.3(POU4F3):c.118C>T (p.Gln40Ter) rs1554087566
NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter) rs754645487
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) rs1438223502
NM_002972.4(SBF1):c.3492-1G>T rs1057519117
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_003042.4(SLC6A1):c.595C>T (p.Gln199Ter) rs1559626646
NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser) rs749282641
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003108.4(SOX11):c.511A>T (p.Lys171Ter) rs1553327863
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003124.5(SPR):c.783_786del (p.Ter262ProextTer?) rs1553498611
NM_003159.2(CDKL5):c.2714-1421C>T rs61752147
NM_003165.4(STXBP1):c.664-1G>A rs1554777464
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) rs759270179
NM_003239.4(TGFB3):c.755-1G>C rs1566679646
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) rs1559466824
NM_003282.4(TNNI2):c.380_391del (p.Leu127_Lys130del) rs1057519093
NM_003322.6(TULP1):c.1268T>C (p.Val423Ala) rs1554125521
NM_003322.6(TULP1):c.1496-6C>A rs281865171
NM_003331.5(TYK2):c.647del (p.Pro216fs) rs1555719963
NM_003384.3(VRK1):c.266G>C (p.Arg89Pro) rs773138218
NM_003482.3(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.3(KMT2D):c.14382+1G>C rs1555186428
NM_003482.3(KMT2D):c.4342_4343TG[1] (p.Cys1448_Asp1449delinsTer) rs1064797168
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.4(DYSF):c.5018del (p.Lys1673fs) rs1064797253
NM_003620.3(PPM1D):c.1237_1238del (p.Pro413fs) rs1555648565
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln) rs758701470
NM_003682.4(MADD):c.3760-2A>C rs1555081426
NM_003682.4(MADD):c.979C>T (p.Arg327Ter) rs147179561
NM_003722.5(TP63):c.851_852AG[1] (p.Ser285fs) rs1553857303
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met) rs113994053
NM_003919.3(SGCE):c.193G>T (p.Glu65Ter) rs1064797339
NM_003919.3(SGCE):c.233-2del rs1562864687
NM_003919.3(SGCE):c.667del (p.Tyr223fs) rs1057519246
NM_003919.3(SGCE):c.707T>G (p.Leu236Ter) rs1554345208
NM_003919.3(SGCE):c.715_719dup (p.Asn241fs) rs1554345179
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) rs1562811414
NM_003998.4(NFKB1):c.1361dup (p.Asn454fs) rs1560706306
NM_004006.2(DMD):c.7660+1G>C rs1556852444
NM_004006.2(DMD):c.79dup (p.Ala27fs) rs1057519180
NM_004064.4(CDKN1B):c.215dup (p.Lys73fs) rs1555085549
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004181.5(UCHL1):c.385_386AG[4] (p.Ala130fs) rs1554004920
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_004183.4(BEST1):c.38G>C (p.Arg13Pro) rs281865209
NM_004183.4(BEST1):c.397A>C (p.Asn133His) rs755851136
NM_004183.4(BEST1):c.712del (p.Gln238fs) rs1555100476
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) rs1554903709
NM_004320.5(ATP2A1):c.2862+1G>A rs755227074
NM_004321.7(KIF1A):c.1502del (p.Pro501fs) rs1057519164
NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_004321.7(KIF1A):c.4036C>T (p.Arg1346Ter) rs1057519240
NM_004369.3(COL6A3):c.4624C>T (p.Gln1542Ter) rs1553557696
NM_004370.6(COL12A1):c.4957+1G>A rs1366112521
NM_004370.6(COL12A1):c.7519+1G>A rs1064797326
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289
NM_004523.3(KIF11):c.2267+4delA rs1057519141
NM_004523.4(KIF11):c.1154dup (p.Leu385fs) rs1554860819
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004656.4(BAP1):c.37+1G>T rs1559593339
NM_004672.5(MAP3K6):c.3781del (p.Arg1261fs) rs768616209
NM_004820.5(CYP7B1):c.1328G>C (p.Gly443Ala) rs1190562443
NM_004826.4(ECEL1):c.332del (p.Phe111fs) rs764471983
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala) rs1557731896
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004992.3(MECP2):c.1164A>C (p.Pro388=) rs797044732
NM_004992.3(MECP2):c.1214_1227del (p.Pro405fs) rs1557135208
NM_004992.3(MECP2):c.1246G>T (p.Glu416Ter) rs1057519216
NM_004992.3(MECP2):c.397C>A (p.Arg133Ser) rs28934904
NM_004992.3(MECP2):c.451G>T (p.Asp151Tyr) rs1557137042
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005005.3(NDUFB9):c.347C>T (p.Pro116Leu) rs781372333
NM_005006.7(NDUFS1):c.1589_1596del (p.Tyr530fs) rs1553503177
NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs) rs1553503175
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp) rs774980346
NM_005051.3(QARS1):c.2068C>T (p.Arg690Cys) rs370934093
NM_005097.4(LGI1):c.688del (p.Gln230fs) rs1064797149
NM_005183.4(CACNA1F):c.2119-2A>G rs1358925739
NM_005183.4(CACNA1F):c.2822_2823AT[1] (p.Met942fs)
NM_005183.4(CACNA1F):c.3269+1G>A rs1064797371
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451
NM_005208.4(CRYBA1):c.269_271GAG[1] (p.Gly91del) rs1064797219
NM_005211.3(CSF1R):c.2345G>T (p.Arg782Leu) rs281860281
NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter) rs690016556
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005249.4(FOXG1):c.885dup (p.Gly296Argfs) rs1555321369
NM_005373.2(MPL):c.1781T>G (p.Leu594Trp) rs1448812001
NM_005422.2(TECTA):c.2359del (p.Glu787fs) rs1057519150
NM_005422.2(TECTA):c.6152C>G (p.Ser2051Cys) rs1064797163
NM_005559.4(LAMA1):c.7354A>T (p.Lys2452Ter) rs1178467103
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005591.3(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005591.3(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005609.4(PYGM):c.1456G>A (p.Gly486Ser) rs926661627
NM_005609.4(PYGM):c.1970-2A>T rs1064797157
NM_005619.5(RTN2):c.265C>T (p.Gln89Ter) rs1568625691
NM_005654.6(NR2F1):c.239G>T (p.Ser80Ile) rs1561523678
NM_005654.6(NR2F1):c.278C>A (p.Ser93Ter) rs1064797311
NM_005709.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) rs1553945794
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005993.5(TBCD):c.2048_2052dup (p.Glu685Ter) rs1568044300
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_006005.3(WFS1):c.2208_2211del (p.Glu737fs) rs1064797306
NM_006019.4(TCIRG1):c.806_807+1del rs1554995891
NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter) rs1555974965
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925
NM_006059.4(LAMC3):c.2833del (p.Gln945fs) rs1554789398
NM_006060.6(IKZF1):c.1480_1481del (p.Met494fs) rs1554391793
NM_006070.6(TFG):c.337C>T (p.Arg113Ter) rs764959531
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) rs1131691696
NM_006087.4(TUBB4A):c.292G>C (p.Gly98Arg) rs1255699601
NM_006158.4(NEFL):c.1195C>T (p.Arg399Ter) rs1429859627
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871
NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494fs)
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006294.4(UQCRB):c.310G>T (p.Glu104Ter) rs1554577679
NM_006306.3(SMC1A):c.1475A>G (p.Gln492Arg) rs1556890139
NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) rs138213197
NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs) rs1555550025
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.3(SLC2A1):c.482A>G (p.Gln161Arg) rs1553156154
NM_006516.3(SLC2A1):c.695G>A (p.Arg232His) rs139412383
NM_006593.4(TBR1):c.1054C>T (p.Gln352Ter) rs1553510472
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006744.4(RBP4):c.353G>A (p.Gly118Glu) rs1554887443
NM_006749.5(SLC20A2):c.1710-1G>A rs1554546372
NM_006766.5(KAT6A):c.2007del (p.Leu669fs) rs1564013046
NM_006766.5(KAT6A):c.296G>A (p.Trp99Ter) rs1554702654
NM_006766.5(KAT6A):c.3039+1G>T rs1554681382
NM_006767.4(LZTR1):c.842del (p.Pro281fs) rs1419091884
NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr) rs1561788965
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs) rs1554122276
NM_006772.3(SYNGAP1):c.663+1G>A rs1064797322
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006915.3(RP2):c.365G>A (p.Cys122Tyr) rs1556318642
NM_006915.3(RP2):c.392del (p.Cys131fs) rs1064797368
NM_006920.6(SCN1A):c.266del (p.Thr89fs) rs1064797266
NM_006920.6(SCN1A):c.3627del (p.Phe1209fs) rs1553532582
NM_006920.6(SCN1A):c.3665G>A (p.Gly1222Asp) rs1553532470
NM_006920.6(SCN1A):c.3893T>G (p.Leu1298Arg) rs1553529527
NM_006920.6(SCN1A):c.4826T>C (p.Phe1609Ser) rs1317010570
NM_006920.6(SCN1A):c.4873del (p.Arg1625fs) rs1553520483
NM_006920.6(SCN1A):c.5582del (p.Thr1861fs) rs1553520001
NM_006920.6(SCN1A):c.667G>C (p.Ala223Pro) rs1553550552
NM_006920.6(SCN1A):c.749T>A (p.Val250Glu) rs1553549845
NM_006946.3(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006950.3(SYN1):c.1962del (p.Pro655fs) rs1556857412
NM_006950.3(SYN1):c.2026del (p.Ala676fs) rs1064797369
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699
NM_007118.4(TRIO):c.1717C>T (p.Gln573Ter) rs1554054155
NM_007171.3(POMT1):c.1618_1635delinsTGACGTCCTGCTGACG (p.Leu540_Arg545delinsTer) rs1564381395
NM_007171.3(POMT1):c.1618del (p.Leu540fs) rs1453641005
NM_007175.8(ERLIN2):c.237-1G>A rs1057519172
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007262.5(PARK7):c.189dup (p.Glu64fs) rs759703272
NM_007315.3(STAT1):c.1024A>C (p.Thr342Pro) rs1064797279
NM_012280.4(FTSJ1):c.877dup (p.Gln293fs) rs1569474795
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs) rs868677428
NM_012461.3(TINF2):c.865C>T (p.Pro289Ser) rs1555304055
NM_013227.3(ACAN):c.2188del (p.Ile729_Leu730insTer) rs1555455284
NM_013254.4(TBK1):c.379C>T (p.Arg127Ter) rs1064797170
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys) rs1567537413
NM_013275.6(ANKRD11):c.99dup (p.Val34fs) rs1567614448
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968
NM_014159.6(SETD2):c.1287_1288CT[1] (p.Asp429_Ser430insTer)
NM_014191.4(SCN8A):c.1141C>T (p.Arg381Ter) rs1057519210
NM_014191.4(SCN8A):c.1603A>T (p.Arg535Ter) rs1555219864
NM_014191.4(SCN8A):c.614C>T (p.Ala205Val) rs796053233
NM_014231.5(VAMP1):c.230C>A (p.Ser77Ter) rs1555130465
NM_014236.4(GNPAT):c.838dup (p.Ile280fs) rs1558334598
NM_014264.5(PLK4):c.1232C>G (p.Ser411Ter) rs1379328798
NM_014297.5(ETHE1):c.742G>A (p.Gly248Arg) rs1472698495
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693
NM_014727.2(KMT2B):c.4766_4768del (p.Asp1589del) rs1568377563
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014865.4(NCAPD2):c.1954+1G>A rs149296057
NM_014865.4(NCAPD2):c.445-1G>T rs1555138550
NM_014946.3(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.3(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.3(SPAST):c.1536+1G>C rs1553319095
NM_014946.3(SPAST):c.1775_1778del (p.Ile592fs) rs1553321232
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014989.5(RIMS1):c.3194+1G>A rs1057519205
NM_015046.7(SETX):c.6406C>T (p.Arg2136Cys) rs1554807765
NM_015046.7(SETX):c.7042dup (p.Tyr2348fs) rs1057519213
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.8417dup (p.Gln2808fs) rs1057519133
NM_015214.3(DDHD2):c.1720+1G>A rs1554515767
NM_015214.3(DDHD2):c.517C>T (p.Gln173Ter) rs1424300803
NM_015215.4(CAMTA1):c.4870C>T (p.Gln1624Ter) rs1485778259
NM_015243.2(VPS13B):c.1002T>G (p.Tyr334Ter) rs1057519182
NM_015265.4(SATB2):c.305del (p.Leu102fs) rs1553504273
NM_015275.3(WASHC4):c.1214dup (p.Tyr405Ter) rs1064797173
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015548.5(DST):c.22del (p.Tyr8fs) rs775912185
NM_015560.2(OPA1):c.1065+5G>A rs1057519244
NM_015560.2(OPA1):c.1654T>C (p.Phe552Leu) rs1560380226
NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg) rs1064797302
NM_015560.2(OPA1):c.2386G>T (p.Glu796Ter) rs1553786499
NM_015560.2(OPA1):c.2761_2774del (p.Asp920_Gly921insTer) rs1553788026
NM_015560.2(OPA1):c.700G>T (p.Glu234Ter) rs1319065221
NM_015570.4(AUTS2):c.1587C>G (p.His529Gln) rs1563183444
NM_015629.4(PRPF31):c.580_581GC[1] (p.Leu195fs) rs1555792879
NM_015629.4(PRPF31):c.743dup (p.Asn248fs) rs1064797250
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_015631.6(TCTN3):c.1582_1590+7del rs781327291
NM_015915.4(ATL1):c.1308T>A (p.Asn436Lys) rs751796325
NM_015932.6(POMP):c.326dup (p.Asp109fs) rs1555257069
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885
NM_016219.5(MAN1B1):c.2065G>A (p.Glu689Lys) rs747045738
NM_016239.4(MYO15A):c.4949_4953dup (p.Leu1652fs) rs1064797218
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) rs1555546699
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016373.3(WWOX):c.107+2_107+5delTAAG rs1555532979
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076
NM_016835.4(MAPT):c.2038G>A (p.Val680Ile) rs63750869
NM_017534.6(MYH2):c.5472+1G>A rs758888662
NM_017534.6(MYH2):c.713C>T (p.Thr238Ile) rs965291972
NM_017739.3(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017837.3(PIGV):c.614A>G (p.Asn205Ser) rs766452597
NM_017849.3(TMEM127):c.49_52del (p.Ser17fs) rs1558756681
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_018105.2(THAP1):c.270_273delAGAA (p.Glu91Ilefs) rs749414480
NM_018105.3(THAP1):c.574G>A (p.Asp192Asn) rs377725442
NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) rs1064797344
NM_018255.4(ELP2):c.1714del (p.Cys572fs) rs1283454201
NM_018328.4(MBD5):c.1326dup (p.Val443fs) rs1553518563
NM_018328.4(MBD5):c.4276A>T (p.Lys1426Ter) rs1553521650
NM_018489.3(ASH1L):c.2808del (p.Phe936fs) rs1558149683
NM_018489.3(ASH1L):c.4651_4654del (p.Asn1551fs) rs1553264873
NM_018684.4(ZC4H2):c.320_321del (p.His107fs) rs1569200407
NM_019105.8(TNXB):c.3762_3763dup (p.Arg1255fs) rs765028734
NM_019112.3(ABCA7):c.4208delT (p.Leu1403Argfs) rs538591288
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020366.3(RPGRIP1):c.2368-2A>G rs1064797182
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020631.5(PLEKHG5):c.985-2A>G rs1553174566
NM_020661.4(AICDA):c.92A>G (p.Tyr31Cys) rs1057519097
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) rs1554270809
NM_020732.3(ARID1B):c.5338C>T (p.Gln1780Ter) rs750447037
NM_020732.3(ARID1B):c.5599dup (p.Glu1867fs) rs1554237473
NM_020732.3(ARID1B):c.6035G>A (p.Trp2012Ter) rs1554237845
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281
NM_020920.4(CHD8):c.853C>T (p.Arg285Ter) rs1057524677
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020988.3(GNAO1):c.674_675GT[1] (p.Val226fs) rs1064797211
NM_021076.4(NEFH):c.469_491del (p.Val157fs) rs763364083
NM_021830.5(TWNK):c.1768C>T (p.Gln590Ter) rs1064797150
NM_021942.6(TRAPPC11):c.1737del (p.Ile579fs) rs1554008866
NM_021942.6(TRAPPC11):c.1737dup (p.Gly580fs) rs1554008865
NM_021964.2(ZNF148):c.1191_1194del (p.Ser397fs) rs1560102245
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022089.4(ATP13A2):c.477+2T>G rs758014228
NM_022124.6(CDH23):c.6253+1G>A rs1554874373
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter) rs1564807887
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.505A>T (p.Lys169Ter) rs201495678
NM_022765.4(MICAL1):c.2291_2300del (p.Gly764fs) rs1447618526
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_024426.6(WT1):c.699C>A (p.Tyr233Ter) rs1349302999
NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys) rs141476300
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024649.5(BBS1):c.1228_1231GAGG[1] (p.Gly411fs) rs1555049194
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) rs1555460682
NM_024685.4(BBS10):c.856_857TC[3] (p.Gln287fs) rs1057516836
NM_024915.4(GRHL2):c.801del (p.Met267fs) rs1064797348
NM_025077.4(TOE1):c.-35C>T rs1553136984
NM_025114.3(CEP290):c.2682_2683insA (p.Ser895Ilefs) rs1555216730
NM_025114.3(CEP290):c.3784_3785insTT (p.His1262Leufs) rs1064797171
NM_025114.3(CEP290):c.4029G>A (p.Lys1343=) rs1057519245
NM_025114.3(CEP290):c.6135+2T>A rs1555200648
NM_025114.3(CEP290):c.6516delA (p.Lys2172Asnfs) rs1057519165
NM_025114.3(CEP290):c.7048C>A (p.Gln2350Lys) rs375548374
NM_025137.4(SPG11):c.6733_6736TTGA[1] (p.Ile2246fs) rs312262781
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) rs980641322
NM_030632.3(ASXL3):c.4255_4258dup (p.Met1420fs) rs1555744217
NM_030962.3(SBF2):c.2578C>T (p.Arg860Ter) rs764814296
NM_030962.3(SBF2):c.2597del (p.Pro866fs) rs1554925904
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_031226.3(CYP19A1):c.201G>A (p.Trp67Ter) rs1057519118
NM_031407.7(HUWE1):c.12511G>T (p.Asp4171Tyr) rs1569398624
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527
NM_031844.3(HNRNPU):c.17_33del (p.Val6fs) rs1558190933
NM_032273.4(TMEM126A):c.86+2T>C rs1555208375
NM_032409.3(PINK1):c.1153T>C (p.Phe385Leu) rs763416852
NM_032446.3(MEGF10):c.1976-1G>A rs1057519152
NM_032520.5(GNPTG):c.233+1G>C rs376679416
NM_032682.5(FOXP1):c.1653_1672dup (p.Asn558fs) rs1559596699
NM_032682.5(FOXP1):c.1722+1G>A rs1553660900
NM_032856.3(WDR73):c.1132delC (p.Arg378Alafs) rs747109506
NM_033071.3(SYNE1):c.14010del (p.Ser4671fs) rs1554468335
NM_033071.3(SYNE1):c.15134T>A (p.Leu5045Ter) rs1452163185
NM_033071.3(SYNE1):c.17704C>T (p.Gln5902Ter) rs1064797331
NM_033071.3(SYNE1):c.7578del (p.Phe2527fs) rs1064797332
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033407.3(DOCK7):c.1872-6del rs1161370391
NM_033407.3(DOCK7):c.4956del (p.Pro1653fs) rs1064797112
NM_033517.1(SHANK3):c.1368dup (p.Ala457fs) rs1064797289
NM_033517.1(SHANK3):c.1496del (p.Lys499fs) rs1064797290
NM_033517.1(SHANK3):c.2265+1G>A rs1396379503
NM_033517.1(SHANK3):c.3788dup (p.Ala1264fs) rs1555910193
NM_033517.1(SHANK3):c.4032_4035del (p.Glu1344fs) rs1569116167
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038
NM_080629.2(COL11A1):c.4338+2T>C rs1553196233
NM_080629.2(COL11A1):c.652-1G>C rs1064797115
NM_080632.2(UPF3B):c.2_3insA (p.Met1fs) rs1569464167
NM_080679.2(COL11A2):c.1540C>A (p.Pro514Thr) rs121912952
NM_080679.2(COL11A2):c.1558C>T (p.Arg520Ter) rs374156844
NM_080679.2(COL11A2):c.3899del (p.Lys1300fs) rs1562312539
NM_080679.2(COL11A2):c.798+2345C>T rs1554223504
NM_080911.3(UNG):c.309del (p.Ser103fs) rs1555264685
NM_130398.4(EXO1):c.136del (p.Lys45_Leu46insTer) rs750915959
NM_130838.3(UBE3A):c.2536del (p.Ala846fs) rs1064797196
NM_133433.4(NIPBL):c.8274dup (p.Leu2759fs) rs1554036165
NM_138348.6(OTULIN):c.325-2A>G rs1553995945
NM_138715.3(MSR1):c.818-1G>A rs772978107
NM_138813.4(ATP8B3):c.1009C>T (p.Arg337Ter) rs568761860
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_139276.2(STAT3):c.1255G>A (p.Gly419Arg) rs1555565595
NM_144499.3(GNAT1):c.82C>T (p.Arg28Ter) rs774214573
NM_144585.4(SLC22A12):c.101_102AG[1] (p.Ser35fs) rs764889032
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144687.3(NLRP12):c.2586G>A (p.Trp862Ter) rs1568662444
NM_144966.5(FREM1):c.5205-1G>T rs1064797351
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347
NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_152269.5(C12orf65):c.427_442dup (p.Thr148fs) rs1439433665
NM_152296.5(ATP1A3):c.1072G>C (p.Gly358Arg) rs606231432
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr) rs1555859593
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152722.5(HEPACAM):c.85+1G>A rs1555056722
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_153460.4(IL17RC):c.1674dup (p.Pro559fs) rs1559327071
NM_153603.4(COG7):c.1166_1167insT (p.Gln389fs) rs1057519232
NM_170707.4(LMNA):c.158A>G (p.Glu53Gly) rs60290646
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg) rs1064797284
NM_172107.4(KCNQ2):c.816+1G>A rs1057519124
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) rs1555627787
NM_173630.4(RTTN):c.4474C>T (p.Gln1492Ter) rs1555717153
NM_173841.2(IL1RN):c.74-3C>G rs112879651
NM_174917.5(ACSF3):c.1378dup (p.Val460fs) rs751342087
NM_176787.5(PIGN):c.1674+1G>A rs376355678
NM_177438.2(DICER1):c.3682C>T (p.Gln1228Ter) rs1566767820
NM_177550.4(SLC13A5):c.1141del (p.Ser381fs) rs1555541486
NM_178152.3(DCX):c.305G>A (p.Arg102His) rs267606317
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543
NM_181789.4(GLDN):c.1179-2A>G rs141816048
NM_181882.2(PRX):c.3343del (p.Ala1115fs) rs1064797244
NM_182914.2(SYNE2):c.4397G>A (p.Arg1466Gln) rs1064797188
NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs) rs1057519157
NM_182978.4(GNAL):c.448G>T (p.Glu150Ter) rs1568010705
NM_182978.4(GNAL):c.462_463del (p.Lys155fs) rs1057519098
NM_182978.4(GNAL):c.504+1G>T rs1555646537
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_183065.4(TMEM107):c.*759C>T rs201787275
NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter) rs766380148
NM_183075.3(CYP2U1):c.555del (p.Arg186fs) rs1057519146
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198994.3(TGM6):c.842_843insC (p.Cys282fs) rs1555799867
NM_198994.3(TGM6):c.844_850+3del rs1555799870
NM_199292.3(TH):c.1064C>T (p.Pro355Leu) rs777379609
NM_199292.3(TH):c.385C>T (p.Arg129Ter) rs1057519220
NM_205768.2(ZBTB18):c.1421C>T (p.Pro474Leu) rs1553270631
NM_206876.1(PPP1CB):c.255C>A (p.Asn85Lys) rs1553310744
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167+1G>C rs794727408
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8634_8637TATT[3] (p.Ser2881fs) rs1553272035
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203
NM_213599.2(ANO5):c.1631-12_1631-2del rs886043327

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